Results 311 to 320 of about 2,729,552 (357)

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

Journal of Inherited Metabolic Disease, 2019
The laboratory diagnosis of inborn errors of metabolism has been revolutionized in recent years, thanks to the amazing developments in the field of DNA sequencing including whole exome and whole genome sequencing (WES and WGS).
R. Wanders, F. Vaz, S. Ferdinandusse, A. V. van Kuilenburg, S. Kemp, C. V. van Karnebeek, H. Waterham, R. Houtkooper   +7 more
semanticscholar   +1 more source

Inborn errors of metabolism

The American Journal of Clinical Nutrition, 1979
Human nutrition science and practise to the outsider, at any rate, appears to emphasize the availability, procurement, preparation, and requirement of foodstuffs in man in both health and disease. Special consideration has, of course, been given to defining needs at various ages, the Recommended Dietary Allowances (RDAs), to the biochemistry of ...
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Inborn errors of metabolism [PDF]

Notes and Records of the Royal Society of London, 1995
Alexander G. Bearn, Archibald Garrod and the Individuality of Man . Oxford, Clarendon Press 1993. Pp. xvi+227, £20. ISBN 0-19-2621459 Archibald Garrod was born in 1857, two years before Darwin’s Origin of Species and eight years before Mendel published his paper on the patterns of inheritance
openaire   +1 more source

Inborn Errors of Metabolism—Approach to Diagnosis and Management in Neonates

Indian Journal of Pediatrics, 2021
Umamaheswari Balakrishnan
semanticscholar   +1 more source

Inborn errors of metabolism

Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland Kiess, Anna Kirstein, Skadi Beblo   +2 more
openaire   +3 more sources

Inborn Errors of Pterin Metabolism

Annual Review of Nutrition, 1988
HY PERPHENY LALANINEMIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCy 188 GTP Cyclohydrolase I Deficiency 188 6-Pyruvoyl Tetrahydropterin Synthase Deficiency 189 Dihydropteridine Reductase Deficiency 191 Other Forms ...
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Inborn Errors of Fructose Metabolism

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
openaire   +3 more sources

Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
William H. Crouch, Clara May Evanhoe
openaire   +6 more sources

Inborn errors of metabolism

Nutrition & Food Science, 1972
Absorbed nutrients follow three possible pathways in the body. They may be incorporated intact into body components (such as proteins), converted into physiologically essential materials (as in the conversion of tyrosine into thyroxine) or broken down with the release of energy and the formation of elementary excretory products.
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Inborn Errors of Metabolism

2017
Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT),
Allison L. Goetsch, Teresa K. Woodruff, Dana Kimelman   +2 more
openaire   +3 more sources